Homocystinuria

Homocystinuria is an inherited (genetic) disease characterized by incomplete breakdown of the amino acid methionine in the body. It is naturally obtained from dietary proteins and usually converts to homocysteine, and then to cysteine. In individuals with homocystinuria, homocysteine does not convert to cysteine in the body, leading to its accumulation in the blood and urine. Symptoms of homocystinuria include thrombosis (formation of blood clots in blood vessels), bone weakness, skeletal abnormalities, ectopia lentis (dislocation of the lens of the eye), and mental retardation. The disease is severe, and mortality is high.

Source | Glossary of Most Commonly Used Biomedical Terms and Concepts | Lithuanian University of Health Sciences | Academician Professor Antanas Praškevičius, Professor Laima Ivanovienė